Heart Defects

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 Heart Defects - 1
• Heart and vascular abnormalities make up the
largest category of human birth defects.
• Genetic factors
• Environmental agents
• Both (multifactorial causes)
• Cardiovascular teratogens include rubella
virus and thalidomide. Others include retinoic
acid (Accutane), alcohol.
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 Heart Defects - 2
• Atrial Septal Defect
• Tricuspid atresia
• Ebstein anomaly
• Ventricular septal defects (VSDs)
• Persistent truncus arteriosus
• Transposition of the great vessels

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 Atrial septal defect (ASD)
• A congenital heart abnormality with an
incidence of 6.4/10,000 births.
• 2:1 prevalence in female to male infants.
• Most significant defects is the:
• Ostium secundum defect.
• Persistent atrioventricular canal

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• A. Normal atrial septum formation.
• B,C. Ostium secundum defect caused by excessive resorption of the septum
primum.
• D,E. Similar defect caused by failure of development of the septum secundum.
• F. Common atrium, or cor triloculare biventriculare, resulting from complete failure
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of the septum primum and septum secundum to form.
 Persistent atrioventricular canal
• Endocardial cushions : Structures consisting of loose
connective tissue covered by endothelium that are
responsible for most septation processes occurring in
the heart.
• Divide the canal into a right and left orifice.
• Participate in formation of the membranous portion of
the interventricular septum and in closure of the
ostium primum.
• Persistent atrioventricular canal happens when
Endocardial cushions fail to fuse.
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• A. Persistent common
atrioventricular canal. This
abnormality is always
accompanied by a septum
defect in the atrial as well
as in the ventricular portion
of the cardiac partitions.

• B. Valves in the
atrioventricular orifices
under normal conditions.

• C. Split valves in a persistent

atrioventricular canal.

• D,E. Ostium primum defect

caused by incomplete
fusion of the
atrioventricular endocardial
cushions.
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 Tricuspid atresia
• Obliteration of the right atrioventricular orifice.
• characterized by the absence or fusion of the
tricuspid valves.
• Always associated with
• (a) patency of the oval foramen
• (b) ventricular septal defect
• (c) underdevelopment of the right ventricle
• (d) hypertrophy of the left ventricle.
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• A. Normal heart.

• B. Tricuspid atresia. Note the small right ventricle and the

large left ventricle. 9
 Ventricular septal defects (VSDs)
• Involves the membranous or muscular portion
of the septum.
• Most common congenital cardiac
malformation (12/10,000 births)
• Often associated with abnormalities in
partitioning of the conotruncal region

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• A. Normal heart.
• B. Isolated defect in the membranous portion of the
interventricular septum. Blood from the left
ventricle flows to the right through the
interventricular foramen (arrows). 11
 Tetralogy of Fallot
• Most frequently occurring abnormality of the conotruncal
region.
• Due to an unequal division of the conus resulting from anterior
displacement of the conotruncal septum
• produces four cardiovascular alterations:
• (a) pulmonary infundibular stenosis
• (b) a large defect of the interventricular septum;
• (c) an overriding aorta that arises directly above the septal
defect
• (d) hypertrophy of the right ventricular wall because of higher
pressure on the right side.

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• A. Surface view.
• B. The four components of the defect: pulmonary
stenosis, overriding aorta, interventricular septal
defect, and hypertrophy of the right ventricle.
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 Persistent truncus arteriosus
• Results when the conotruncal ridges fail to
fuse and to descend toward the ventricles
• Occurs in 0.8/10,000 births

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• The pulmonary artery originates from a common
truncus (A).
• The septum in the truncus and conus has failed to
form (B).
• This abnormality is always accompanied by an
interventricular septal defect. 15
 Transposition of the great vessels
• Occurs when the conotruncal septum fails to
follow its normal spiral course and runs straight
down.
• As a consequence, the aorta originates from the
right ventricle, and the pulmonary artery
originates from the left ventricle.
• Occurs in 4.8/10,000 births
• Sometimes is associated with a defect in the
membranous part of the interventricular septum.
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• A. Transposition of the great vessels.
• B. Pulmonary valvular atresia with a normal aortic
root. The only access route to the lungs is by way of
a patent ductus arteriosus. 17
• A. Aortic valvular stenosis.
• B. Aortic valvular atresia. Arrow in the arch of the
aorta indicates direction of blood flow. The coronary
arteries are supplied by this retroflux. Note the small
left ventricle and the large right ventricle.
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 Valvular stenosis
• Valvular stenosis of Pulmonary artery or aorta
occurs when the semilunar valves are fused for a
variable distance.
• Similair incidence for both, occurs in 3 to
4/10,000 births.
• Valvular stenosis of the pulmonary artery: the
trunk of the pulmonary artery is narrow or even
atretic.
• Aortic valvular stenosis
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 Some other defects
• DiGeorge sequence: characterized by a
pattern of malformations that have their
origin in abnormal neural crest development.
• Ectopia cordis: a rare anomaly in which the
heart lies on the surface of the chest.
• Ebstein anomaly: a condition where the
tricuspid valve is displaced toward the apex of
the right ventricle.

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